Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM: Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum Molec Genet 8:743-749, 1999.
Yu C, Niakan KK, Matsushita M, Stamatoyannopoulos G, Orkin SH, Raskind WH: X-linked thrombocytopenia with thalassemia due to a mutation in the amino-finger of GATA-1 affecting DNA-binding rather than FOG-1 interaction. Blood 100:2040-2045, 2002.
Chen D-H, Brkanac Z, Verlinde CLMJ, Tan X-J, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH. Missense mutations in the regulatory domain of PKCg: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 72:839-849, 2003.
Raskind WH, Igo RP, Jr, Chapman NH, Berninger VW, Thomson JB, Matsushita M, Brkanac Z , Holzman T, Brown M, Wijsman EM. A genome scan in multigenerational families with dyslexia: Identification of a novel locus on chromosome 2q that contributes to phonological decoding efficiency. Molec Psychiatry, 10:699-711, 2005.
Brkanac Z, Spencer D, Shendure J, Robertson PD, Matsushita M, Vu T, Bird TD, Olson MV, Raskind WH. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. Am J Hum Genet 84:692-697, 2009.
Korvatska O, Strand NS, Berndt JD, Strovas T, Chen DH, Leverenz JB, Kiianitsa K, Mata IF, Karakoc E, Greenup JL, Bonkowski E, Chuang J, Moon RT, Eichler EE, Nickerson DA, Zabetian CP, Kraemer BC, Bird TD, Raskind WH. Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). Hum Molec Genet 22:3259-68, 2013.
Chen D-H, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet, M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE, Torkamani A, Roze E, Bird TD, Raskind WH. ADCY5-related dyskinesia: broader spectrum and genotype/phenotype correlations. Neurology 85:2026-35, 2015.
Chen DH, Below JE, Shimamura A, Matsushita M, Keel SB, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH. Ataxia-pancytopenia syndrome is caused by missense mutations in SAMD9L. Am J Hum Genet 98:1146-1158, 2016.